RNF213

ring finger protein 213

Summary

This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

Known Variants653 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14296281717:78,237,494C/T—benign
rs37237681217:78,237,495G/A—likely benign
rs77506270517:78,237,543C/T—likely benign
rs251101050317:78,237,545G/A—uncertain significance
rs204350821717:78,237,555G/T—likely benign
rs991635117:78,239,532T/Cregulatory region variant—
rs18949283117:78,247,020T/G—benign
rs11361477617:78,247,045G/A—benign
rs117868263317:78,247,056C/G—likely pathogenic
rs138257603217:78,247,067C/T—uncertain significance
rs7637498717:78,247,068G/A—benign
rs11449371717:78,247,087A/G—benign
rs991331717:78,247,124C/T—benign
rs14697474417:78,247,125G/A—likely benign
rs76109089817:78,247,136C/T—uncertain significance
rs6082605617:78,247,164C/T—benign
rs14286328117:78,252,686G/T—likely benign
rs53286047417:78,257,346G/A——
rs14523754717:78,261,594G/A—benign
rs102791579617:78,261,630G/A—likely benign
rs14318427317:78,261,657C/G—likely benign
rs14808909617:78,261,658C/T—likely benign
rs20162098517:78,261,704T/C—benign
rs1785371417:78,261,730G/A—benign
rs14917790417:78,261,749C/A—likely benign
rs74968037317:78,261,792C/T—uncertain significance
rs18447479917:78,261,799G/A—likely benign
rs721524317:78,261,805G/A—benign
rs57797538917:78,261,819C/T—uncertain significance
rs14202275117:78,261,835C/T—likely benign
rs722024317:78,261,842T/C—benign
rs11136972617:78,261,854G/A—benign
rs15007164917:78,261,869C/A—likely benign
rs11208991417:78,261,928C/T—likely benign
rs7400370617:78,261,961G/C—benign
rs251111736917:78,261,965C/T—uncertain significance
rs14476959717:78,261,978T/A—likely benign
rs13867796117:78,261,992A/C—likely benign
rs75284016517:78,261,996G/T—likely benign
rs20043734017:78,262,033T/C—likely benign
rs14080735017:78,262,067C/G—likely benign
rs131479828517:78,262,068A/T—uncertain significance
rs14036911617:78,262,109C/T—likely benign
rs1785713517:78,262,161C/T—benign
rs251112026317:78,262,438G/A—uncertain significance
rs14501798517:78,262,538T/C—likely benign
rs36892989517:78,263,481C/T—likely benign
rs1785398917:78,263,486T/C—benign
rs11445459317:78,263,495C/G—benign
rs76476220217:78,263,509G/A—uncertain significance
rs1785371317:78,263,514G/A—benign
rs90621365517:78,263,539C/T—uncertain significance
rs14814325317:78,263,543A/G—benign
rs204462626517:78,263,626G/A—likely pathogenic
rs14192117617:78,263,634A/G—likely benign
rs141190071717:78,263,642G/A—uncertain significance
rs11730893117:78,263,722C/Tintron variant—
rs147320582417:78,264,363C/T—likely benign
rs11260276617:78,264,372G/T—benign
rs15104803117:78,264,380C/T—benign
rs14491241917:78,264,405C/G—uncertain significance
rs7449009617:78,264,436A/G—likely benign
rs123367204717:78,264,437A/G—uncertain significance
rs155564528617:78,264,440C/T—uncertain significance
rs251113579117:78,264,456C/G—likely benign
rs56227396617:78,264,534G/A—uncertain significance
rs5920911817:78,264,546G/T—benign
rs36846213217:78,265,457A/G—likely benign
rs750176717:78,265,514C/T—benign
rs7723931417:78,265,562G/T—benign
rs146038578617:78,265,587C/T—uncertain significance
rs14214811317:78,265,595G/A—likely benign
rs36877709117:78,265,634G/A—likely benign
rs95484634517:78,267,829C/A——
rs75532631717:78,268,529G/A—likely benign
rs75921182417:78,268,539A/G—likely benign
rs101106227717:78,268,555C/T—uncertain significance
rs78045000317:78,268,634C/T—likely benign
rs15119138717:78,268,640G/A—benign
rs20053709717:78,268,664C/A—likely benign
rs14555399117:78,268,688C/T—likely benign
rs14679878417:78,268,715C/T—benign
rs77799722017:78,268,746A/G—conflicting classifications of pathogenicity
rs214338783517:78,268,783T/C—uncertain significance
rs214339656617:78,269,346C/A—likely benign
rs13819654317:78,269,362G/A—likely benign
rs75751353217:78,269,390C/A—uncertain significance
rs14961934217:78,269,416A/T—likely benign
rs37569373717:78,269,421C/T—uncertain significance
rs138347232917:78,269,438G/T—uncertain significance
rs14336050917:78,269,446A/G—likely benign
rs13945629417:78,272,171C/T—benign
rs14201767517:78,272,224C/T—likely benign
rs14968615517:78,272,227C/T—benign
rs7284983717:78,272,230C/G—benign
rs7284984117:78,272,294T/C—benign
rs214345360317:78,272,297T/G—uncertain significance
rs94589588617:78,272,300G/A—uncertain significance
rs159895260217:78,272,304A/G—likely benign
rs7979228217:78,280,065C/G—benign

Showing 100 of 653 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.